Mutation Analysis of FOXF2 in Patients with Disorders of Sex Development (DSD) in Combination with Cleft Palate

Por Jochumsen, U., Werner, R., Miura, N., Richter-Unruh, A., Hiort, O., Holterhus, P.M.
Publicado em 2009

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

Por Girschick, HJ, Schneider, P, Haubitz, I, Hiort, O, Collmann, H, Beer, M, Shin, YS, Seyberth, HW
Publicado em 2006

Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequen...

Por Komminoth, P., Kunz, E., Hiort, O., Schröder, S., Matias-Guiu, X., Christiansen, G., Roth, J., Heitz, P. U.
Publicado em 1994

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be Masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

Por Kremke, B., Bergwitz, C., Ahrens, W., Schütt, S., Schumacher, M., Wagner, V., Holterhus, P.-M., Jüppner, H., Hiort, O.
Publicado no Exp Clin Endocrinol Diabetes (2008)

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’

Por Kulle, A, Krone, N, Holterhus, P M, Schuler, G, Greaves, R F, Juul, A, de Rijke, Y B, Hartmann, M F, Saba, A, Hiort, O, Wudy, S A
Publicado no Eur J Endocrinol (2017)

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

Por Lecumberri, B, Fernández-Rebollo, E, Sentchordi, L, Saavedra, P, Bernal-Chico, A, Pallardo, L F, Jiménez Bustos, J M, Castaño, L, de Santiago, M, Hiort, O, Pérez de Nanclares, G, Bastepe, M
Publicado em 2009

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

Por Lucas-Herald, A., Bertelloni, S., Juul, A., Bryce, J., Jiang, J., Rodie, M., Sinnott, R., Boroujerdi, M., Lindhardt Johansen, M., Hiort, O., Holterhus, P. M., Cools, M., Guaragna-Filho, G., Guerra-Junior, G., Weintrob, N., Hannema, S., Drop, S., Guran, T., Darendeliler, F., Nordenstrom, A., Hughes, I. A., Acerini, C., Tadokoro-Cuccaro, R., Ahmed, S. F.
Publicado no J Clin Endocrinol Metab (2016)

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

Por Hornig, N. C., Ukat, M., Schweikert, H. U., Hiort, O., Werner, R., Drop, S. L. S., Cools, M., Hughes, I. A., Audi, L., Ahmed, S. F., Demiri, J., Rodens, P., Worch, L., Wehner, G., Kulle, A. E., Dunstheimer, D., Müller-Roßberg, E., Reinehr, T., Hadidi, A. T., Eckstein, A. K., van der Horst, C., Seif, C., Siebert, R., Ammerpohl, O., Holterhus, P.-M.
Publicado no J Clin Endocrinol Metab (2016)